ENSG00000135697


Homo sapiens

Features
Gene ID: ENSG00000135697
  
Biological name :BCO1
  
Synonyms : BCO1 / beta-carotene oxygenase 1 / Q9HAY6
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 16
Strand: 1
Band: q23.2
Gene start: 81238448
Gene end: 81291142
  
Corresponding Affymetrix probe sets: 220087_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000258168
Ensembl peptide - ENSP00000455219
Ensembl peptide - ENSP00000457910
NCBI entrez gene - 53630     See in Manteia.
OMIM - 605748
RefSeq - XM_017023288
RefSeq - NM_017429
RefSeq - XM_011523109
RefSeq - XM_017023286
RefSeq - XM_017023287
RefSeq Peptide - NP_059125
swissprot - H3BV18
swissprot - H3BPA2
swissprot - Q9HAY6
Ensembl - ENSG00000135697
  
Related genetic diseases (OMIM): 115300 - ?Hypercarotenemia and vitamin A deficiency, autosomal dominant, 115300
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 bco1ENSDARG00000104256Danio rerio
 bco1lENSDARG00000103659Danio rerio
 BCO1ENSGALG00000005408Gallus gallus
 Bco1ENSMUSG00000031845Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
BCO2 / Q9BYV7 / beta-carotene oxygenase 2ENSG0000019758037
RPE65 / Q16518 / RPE65, retinoid isomerohydrolaseENSG0000011674533


Protein motifs (from Interpro)
Interpro ID Name
 IPR004294  Carotenoid oxygenase


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001523 retinoid metabolic process IEA
 biological_processGO:0035238 vitamin A biosynthetic process NAS
 biological_processGO:0042572 retinol metabolic process IEA
 biological_processGO:0042574 retinal metabolic process NAS
 biological_processGO:0055114 oxidation-reduction process IEA
 biological_processGO:1901810 beta-carotene metabolic process IEA
 cellular_componentGO:0005829 cytosol TAS
 molecular_functionGO:0003834 beta-carotene 15,15"-monooxygenase activity TAS
 molecular_functionGO:0016491 oxidoreductase activity IEA
 molecular_functionGO:0016702 oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen IEA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0051213 dioxygenase activity IEA


Pathways (from Reactome)
Pathway description
Retinoid metabolism and transport


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000951 Abnormality of the skin "An abnormality of the `skin` (FMA:7163)." [HPO:probinson]
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 HP:0004905 Vitamin A deficiency 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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